Prenatal diagnosis of a de novo pathogenic HNRNPK variant in a Chinese fetus with abnormal ultrasound soft markers: a case report - Zhu, Yuying; Yang, Zhen; Zhu, Qiumin; Wu, Ke; He, Junying; Zhou, Hongmei (Frontiers in genetics, 2025)
Keywords: de novo variant; hnRNPK; nuchal translucency; prenatal diagnosis; whole-exome sequencing